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伴有基底节钙化的假性甲状旁腺功能减退症:一例可逆性帕金森病罕见病因的病例报告

Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism.

作者信息

Song Cheng-Yuan, Zhao Zhen-Xiang, Li Wei, Sun Cong-Cong, Liu Yi-Ming

机构信息

Department of Neurology, Qilu Hospital of Shandong University, Jinan, China.

出版信息

Medicine (Baltimore). 2017 Mar;96(11):e6312. doi: 10.1097/MD.0000000000006312.

Abstract

RATIONALE

Parkinsonism can be secondary to many internal diseases, in some certain conditions, it seems that the clinical manifestations of parkinsonism presenting reversible. We report a case of patient with parkinsonism secondary to pseudohypoparathyroidism, who improved markedly after the supplement of serum calcium.

PATIENT CONCERNS AND DIAGNOSES

A 52-year-old woman with acute parkinsonism was diagnosed as pseudohypoparathyroidism after the conducting of brain computed tomography, laboratory examinations, and gene detection. The son of the patient was also examined and was diagnosed as pseudohypoparathyroidism, who had ever complained of the history of epilepsy. The clinical manifestations of parkinsonism of the patient was reevaluated after the supplement of serum calcium according to the diagnosis.

INTERVENTIONS AND OUTCOMES

The brain computed tomography revealed the basal ganglia calcification of the patient, accompanying by serum hypocalcemia and hyperphosphatemia. Loss of function mutation also confirmed the diagnosis. Five days after the therapy targeting at correction of serum hypocalcemia, the patient improved greatly in dyskinesia.

LESSONS

This study reported a patient presenting as acute reversible parkinsonism, who was finally diagnosed as pseudohypoparathyroidism. It indicated us that secondary parkinsonism should be carefully differentiated for its dramatic treatment effect. And the family history of seizures might be an indicator for the consideration of pseudohypoparathyroidism.

摘要

理论依据

帕金森综合征可能继发于多种内科疾病,在某些特定情况下,帕金森综合征的临床表现似乎是可逆的。我们报告一例继发于假性甲状旁腺功能减退症的帕金森综合征患者,补充血清钙后病情明显改善。

患者情况与诊断

一名52岁急性帕金森综合征女性患者,经头颅计算机断层扫描、实验室检查及基因检测后被诊断为假性甲状旁腺功能减退症。患者之子也接受了检查,被诊断为假性甲状旁腺功能减退症,其曾有癫痫病史。根据诊断补充血清钙后对患者帕金森综合征的临床表现进行了重新评估。

干预措施与结果

头颅计算机断层扫描显示患者基底节钙化,伴有血清低钙血症和高磷血症。功能丧失突变也证实了诊断。针对血清低钙血症进行治疗5天后,患者的运动障碍有了很大改善。

经验教训

本研究报告了一名表现为急性可逆性帕金森综合征的患者,最终被诊断为假性甲状旁腺功能减退症。这提示我们,由于继发性帕金森综合征的治疗效果显著,应仔细鉴别。癫痫家族史可能是考虑假性甲状旁腺功能减退症的一个指标。

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